Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		169 0 62 0.23 0 0
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity 		41 0 38 0.23 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		49 0 38 0.22 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 42 0.22 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 56 0.22 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 30 67 0.21 1 2.4E-02
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 39 0.20 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		77 12 39 0.20 2 8.7E-02
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 56 0.19 0 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		39 0 32 0.19 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 101 0.19 4 5.6E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 0 78 0.19 0 0
CUI: C4022748
Disease: Focal T2 hyperintense brainstem lesion
Focal T2 hyperintense brainstem lesion 		33 0 29 0.17 0 0
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 0 30 0.17 0 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 0 63 0.17 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 69 0.17 0 0
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy 		37 0 28 0.16 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 35 0.16 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 106 0.16 2 2.9E-02
CUI: C1847515
Disease: Paroxysmal involuntary eye movements
Paroxysmal involuntary eye movements 		39 0 28 0.16 0 0
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I 		41 0 28 0.16 0 0
CUI: C0015930
Disease: Fetal Distress
Fetal Distress 		44 0 28 0.16 0 0
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		125 0 39 0.16 0 0
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate 		45 0 28 0.16 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 104 0.16 0 0